THis is a photo of a kid with the prader-willi syndrome. Prader-Willi syndrome (abbreviated PWS) is a very rare genetic disorder in which seven genes (or some subset thereof) on Chromosome_15_(human)|chromosome 15 (q 11-13) are deleted or unexpressed Chromosome 15q partialdeletion chromosome 15q partial deletion on the paternal chromosome. It was first described in1956 by Andrea Prader, Heinrich Willi, Alexis Labhart, Andrew Ziegler, Fanconi Guido of Switzerland.[[#cite_note-0|[1]] The incidence of PWS is between 1 in 10,000 and 1 in 25,000 live births. The paternal gene origin is lost due to deletion and the maternal genes are silenced due to imprinting. PWS has the sister syndrome|Angelman syndrome that includes maternally deleted and paternally imprinted genes in the same genetic region.

a 15 year old boy wit the prader willi syndrome

• Almond-shaped eyes
• Delayed motor development
• Floppy newborn infant the same genetic region.
• Insatiable appetite, food craving
• Irregular areas of skin that look like bands, stripes, or lines
• Narrow bifrontal skull
• Rapid weight gain
• Skeletal (limb) abnormalities
• Slow mental development
• Small for gestational age
• Undescended testicles in the male infant
• Very small hands and feet in comparison to body

Angelman.PNG

Treatment
Prader-Willi syndrome has no cure, however, several treatments are in place to lessen the condition's symptoms. During infancy, subjects should undergo therapies to improve muscle tone. Speech and occupational therapy are also indicated. During the school years, children benefit from a highly structured learning environment as well as extra help. The largest problem associated with the syndrome is severe obesity.

Because of severe obesity, obstructive sleep apnea is a common sequela, and a positive airway pressure machine is often needed.